Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0003892
Disease: Neurogenic arthropathy
Neurogenic arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 7 2 0.110 None 1.000 1 2020 2020
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.010 None 1.000 1 2020 2020
CUI: C0027719
Disease: Nephrosclerosis
Nephrosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 1 0.010 None 1.000 1 2020 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2020 2020
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.010 None 1.000 1 2020 2020
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.010 None 1.000 1 2020 2020
CUI: C0334371
Disease: Secretory breast carcinoma
Secretory breast carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 19 0.020 None 1.000 2 2019 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2019 2019
CUI: C0026277
Disease: Mixed Salivary Gland Tumor
Mixed Salivary Gland Tumor 		disease Neoplasms Neoplastic Process 185 3 0.010 None 1.000 1 2019 2019
CUI: C0030554
Disease: Paresthesia
Paresthesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 121 8 0.010 None 1.000 1 2019 2019
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 2019 2019
CUI: C0042571
Disease: Vertigo
Vertigo 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.010 None 1.000 1 2019 2019
CUI: C0016045
Disease: fibroma
fibroma 		disease Neoplasms Neoplastic Process 30 4 0.010 None 1.000 1 2019 2019
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.010 None 1.000 1 2019 2019
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 159 12 0.010 None 1.000 1 2019 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2019 2019
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		disease Neoplasms Neoplastic Process 215 6 0.010 None 1.000 1 2019 2019
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.010 None 1.000 1 2019 2019
CUI: C0231749
Disease: Knee pain
Knee pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 38 6 0.010 None 1.000 1 2019 2019
CUI: C0012833
Disease: Dizziness
Dizziness 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 64 14 0.010 None 1.000 1 2019 2019
CUI: C0376544
Disease: Hematopoietic Neoplasms
Hematopoietic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 322 2 0.010 None 1.000 1 2019 2019
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		disease Neoplastic Process 87 9 0.010 None < 0.001 1 2019 2019
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases Neoplastic Process 392 28 0.010 None 1.000 1 2019 2019
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		disease Finding 82 141 0.100 None 1.000 1 1 2019 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma 		disease Neoplasms Neoplastic Process 153 6 0.010 None 1.000 1 2019 2019